A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series

Aniek L van Wijngaarden; Tamara T Koopmann; Claudia A L Ruivenkamp; Hoi W Wu; Nina Ajmone Marsan; Daniela Q C M Barge-Schaapveld

doi:10.1002/ccr3.70282

A PDLIM7 Variant in Familial Mitral Valve Prolapse: A Case Series

Clin Case Rep. 2025 Mar 28;13(4):e70282. doi: 10.1002/ccr3.70282. eCollection 2025 Apr.

Authors

Aniek L van Wijngaarden¹, Tamara T Koopmann², Claudia A L Ruivenkamp², Hoi W Wu¹, Nina Ajmone Marsan¹, Daniela Q C M Barge-Schaapveld²

Affiliations

¹ Department of Cardiology Leiden University Medical Center Leiden the Netherlands.
² Department of Clinical Genetics Leiden University Medical Center Leiden the Netherlands.

Abstract

In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in the PDLIM7 gene. This gene is considered a possible novel candidate gene for familial MVP based on PDLIM7 knock-out mice and zebrafish showing mitral valve abnormalities.

Keywords: PDLIM7; cardiology; genetics and genomics; mitral valve prolapse; whole exome analysis.